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JAMA Neurol：KCNB1基因突变与临床神经系统表型

2017-08-20 zhangfan MedSci原创

KCNB1基因发育迟缓癫痫
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研究认为KCNB1基因离子通道域错义突变和功能丧失型突变可导致患者神经系统发育迟缓，多数伴有癫痫症状，患者存在多种临床表现且疾病的严重程度与蛋白质变异体的类型和位置（不完全）相关

KCNB1错义或功能缺失与许多疾病相关。近日研究人员考察了与KCNB1 突变相关的临床症状谱。本研究对致病性KCNB1突变患者的临床和遗传信息进行总结。患者的信息来自发表文献或临床研究试验。对所有入选者进行遗传学疾病的检查。研究的主要终点是遗传变异及其遗传，患者症状和特征的信息。26名患者参与研究，其中男性15人，平均年龄9.8岁。所有患者均表现出发育迟滞。20人(77%) 存在KCNB1离子通道域错义突变，主要集中于S5到S6区域。导致发育停止的突变3个位于C末端，3个位于离子通道域。25名患者中，21人(84%)存在癫痫，9名患者从3到18个月开始癫痫痉挛。所有发育迟缓患者，17人存在严重发育迟缓，14人存在行为障碍。在6例停止性变异患者中，4例患者的发育延迟较轻，而S2型跨膜元件变异的患者多于S4至S6区域。研究认为KCNB1基因离子通道域错义突变和功能丧失型突变可导致患者神经系统发育迟缓，多数伴有癫痫症状，患者存在多种临床表现且疾病的严重程度与蛋白质变异体的类型和位置（不完全）相关。原始出处：Carolien G. F. de Kovel et al. Neurodevelop

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    2018-03-06 yinhl1978

    #Neurol#

    0

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    2017-09-03 zhaozhouchifen

    #KCNB1基因#

    0

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    2017-08-22 QQ25ed180f

    基因突变-学习了

    0

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    2017-08-22 luoxiaog

    #神经系统#

    0

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    2017-08-22 tastas

    #表型#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=2000076, encodeId=125820000e66b, content=<a href='/topic/show?id=d5df12695e6' target=_blank style='color:#2F92EE;'>#Neurol#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12695, encryptionId=d5df12695e6, topicName=Neurol)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8217292, createdName=yinhl1978, createdTime=Tue Mar 06 20:13:00 CST 2018, time=2018-03-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2085098, encodeId=fa7d20850988d, content=<a href='/topic/show?id=3dd31043353' target=_blank style='color:#2F92EE;'>#KCNB1基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=10433, encryptionId=3dd31043353, topicName=KCNB1基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=524d95, createdName=zhaozhouchifen, createdTime=Sun Sep 03 03:13:00 CST 2017, time=2017-09-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=236020, encodeId=6b59236020be, content=基因突变-学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=69, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://q.qlogo.cn/qqapp/1103841572/C3426ED027FF661B0C576A5B3127C2E8/40, createdBy=39dc1706090, createdName=QQ25ed180f, createdTime=Tue Aug 22 14:10:02 CST 2017, time=2017-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1283054, encodeId=5f021283054a5, content=<a href='/topic/show?id=4fade445192' target=_blank style='color:#2F92EE;'>#神经系统#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=74451, encryptionId=4fade445192, topicName=神经系统)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=02f5179, createdName=luoxiaog, createdTime=Tue Aug 22 00:13:00 CST 2017, time=2017-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1535142, encodeId=c98f153514285, content=<a href='/topic/show?id=099f9020145' target=_blank style='color:#2F92EE;'>#表型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=90201, encryptionId=099f9020145, topicName=表型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9b6412593156, createdName=tastas, createdTime=Tue Aug 22 00:13:00 CST 2017, time=2017-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=235621, encodeId=5905235621ae, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=79, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuCl4zaE0zq0kFsKQmg3vef7gFticiaFX50TWZibZibNHbk3YSJ5uSh1a0DcUiaVIHkoe2Om3eYg7oUTlf/0, createdBy=442c2063958, createdName=海棠胜雪, createdTime=Mon Aug 21 08:11:40 CST 2017, time=2017-08-21, status=1, ipAttribution=)]
    2017-08-21 海棠胜雪

    学习了

    0